ClinVar Miner

List of variants reported as pathogenic for Dent disease type 2 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys) rs137853262
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
OCRL, 2-BP DEL, 166TT
OCRL, ARG476TRP
OCRL, ILE526THR

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